A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2516879



Internal ID17872813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127416574..127417379hg38UCSC Ensembl
Innerchr8:128428819..128429624hg19UCSC Ensembl
Innerchr8:128498001..128498806hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981980
Supporting Variants
SamplesHGDP01284
Known GenesPOU5F1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2516879
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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